Prenatal diagnosis of hypoplastic left heart syndrome and trisomy 18 in a fetus with normal nuchal translucency and abnormal ductus venosus blood flow at 13 weeks of gestation

• Published in: Ultrasound in obstetrics & gynecology Vol. 21; no. 5; pp. 490 - 493
• Main Authors: Martínez Crespo, J. M., Del Río, M., Gómez, O., Borrell, A., Puerto, B., Cararach, V., Fortuny, A.
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01-05-2003; Wiley
• Subjects: Adult; Biological and medical sciences; Blood Flow Velocity - physiology; Chromosomes, Human, Pair 18 - genetics; congenital heart disease; ductus venosus; early echocardiography; Female; Gynecology. Andrology. Obstetrics; Humans; Hypoplastic Left Heart Syndrome - diagnostic imaging; Hypoplastic Left Heart Syndrome - genetics; Hypoplastic Left Heart Syndrome - physiopathology; Medical sciences; Neck - diagnostic imaging; Neck - embryology; nuchal translucency; Pregnancy; Pregnancy Trimester, First; Trisomy; trisomy 18; Ultrasonography, Prenatal - methods; Sonography; Hypoplasia; Gynecology; Obstetrics; Gestational age; Blood flow; Pregnancy; Left heart; Chromosome E18; Prenatal diagnosis; Malformation; Echography; Nuchal translucency; Fetus; Developmental stage; Hemodynamics
• ISSN: 0960-7692; 1469-0705
• DOI: 10.1002/uog.119

We describe a case of early prenatal diagnosis of a major congenital heart anomaly and trisomy 18 in a low‐risk pregnant woman. Nuchal translucency (NT) measurement at 13 weeks' gestation was 1.2 mm and Doppler evaluation of the ductus venosus detected a persistent reversed flow during atrial contraction. This finding prompted us to perform fetal echocardiography which showed hypoplastic left heart syndrome. Karyotyping following chorionic villus sampling diagnosed trisomy 18. Review of the recent literature suggests that the finding of an abnormal ductus venosus Doppler pattern in the late first trimester of pregnancy may be an early sign of either congenital cardiac or chromosomal abnormality, even in the presence of normal NT screening. Copyright © 2003 ISUOG. Published by John Wiley & Sons, Ltd.